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Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3) |
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| Authors: | Gordon A Francis Gang Li Robin Casey Jian Wang Henian Cao Todd Leff Robert A Hegele |
| Affiliation: | (1) Department of Medicine and Biochemistry, University of Alberta, Edmonton, Alberta, T6G 2S2, Canada;(2) Department of Pathology, Wayne State University School of Medicine, 48201 Detroit, Michigan, USA;(3) Department of Medical Genetics, University of Calgary, Calgary, Alberta, T2T 5C7, Canada;(4) Robarts Research Institute, London, Ontario, N6A 5K8, Canada;(5) Department of Medicine, University of Western Ontario, London, Ontario, N6A 5K8, Canada |
| Abstract: | BackgroundFamilial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-γ. Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition. |
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